Canonical Allele Identifier: CA349645145
Gene: TTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178630247C>G , CM000664.2:g.178630247C>G GRCh38
NC_000002.11:g.179494974C>G , CM000664.1:g.179494974C>G GRCh37
NC_000002.10:g.179203219C>G NCBI36
NG_011618.3:g.205556G>C , LRG_391:g.205556G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.36571G>C ENSP00000343764.6:p.Val12191Leu
ENST00000342175.11:c.17656G>C ENSP00000340554.6:p.Val5886Leu
ENST00000359218.10:c.17455G>C ENSP00000352154.5:p.Val5819Leu
ENST00000342175.10:c.17656G>C ENSP00000340554.6:p.Val5886Leu
ENST00000342992.10:c.36571G>C ENSP00000343764.6:p.Val12191Leu
ENST00000359218.9:c.17455G>C ENSP00000352154.5:p.Val5819Leu
ENST00000460472.6:c.17080G>C ENSP00000434586.1:p.Val5694Leu
ENST00000589042.5:c.44275G>C MANE Select ENSP00000467141.1:p.Val14759Leu
ENST00000591111.5:c.39352G>C ENSP00000465570.1:p.Val13118Leu
ENST00000615779.4:c.39352G>C ENSP00000483597.1:p.Val13118Leu
NM_001256850.1:c.39352G>C NP_001243779.1:p.Val13118Leu
NM_001267550.2:c.44275G>C MANE Select NP_001254479.2:p.Val14759Leu
NM_003319.4:c.17080G>C NP_003310.4:p.Val5694Leu
NM_133378.4:c.36571G>C NP_596869.4:p.Val12191Leu
NM_133432.3:c.17455G>C NP_597676.3:p.Val5819Leu
NM_133437.4:c.17656G>C NP_597681.4:p.Val5886Leu
XM_011511729.1:c.43372G>C XP_011510031.1:p.Val14458Leu
XM_011511730.1:c.17266G>C XP_011510032.1:p.Val5756Leu
XM_011511731.1:c.17125G>C XP_011510033.1:p.Val5709Leu
XM_017004819.1:c.43168G>C XP_016860308.1:p.Val14390Leu
XM_017004820.1:c.38566G>C XP_016860309.1:p.Val12856Leu
XM_017004821.1:c.38563G>C XP_016860310.1:p.Val12855Leu
XM_017004822.1:c.35605G>C XP_016860311.1:p.Val11869Leu
XM_017004823.1:c.17221G>C XP_016860312.1:p.Val5741Leu
XM_024453094.1:c.38716G>C XP_024308862.1:p.Val12906Leu
XM_024453095.1:c.38713G>C XP_024308863.1:p.Val12905Leu
XM_024453096.1:c.38146G>C XP_024308864.1:p.Val12716Leu
XM_024453097.1:c.35488G>C XP_024308865.1:p.Val11830Leu
XM_024453098.1:c.35407G>C XP_024308866.1:p.Val11803Leu
XM_024453099.1:c.17170G>C XP_024308867.1:p.Val5724Leu
XM_024453100.1:c.7024G>C XP_024308868.1:p.Val2342Leu